Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut CD97 976 broad.mit.edu 37 19 14508888 14508888 + Silent SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr19:14508888C>T ENST00000242786.5 + 9 914 c.834C>T c.(832-834)ttC>ttT p.F278F CD97_ENST00000357355.3_Silent_p.F229F|CD97_ENST00000358600.3_Silent_p.F185F NM_078481.3 NP_510966.1 P48960 CD97_HUMAN CD97 molecule 278 cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 TTTCCCGATTCTTCGACAAAG 0.587000 5 74 0 0 0.021553 0 0 LYST 1130 broad.mit.edu 37 1 235972999 235972999 + Silent SNP A A G TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr1:235972999A>G ENST00000389794.3 - 5 1293 c.1119T>C c.(1117-1119)ccT>ccC p.P373P LYST_ENST00000389793.2_Silent_p.P373P|LYST_ENST00000536965.1_Silent_p.P373P Q99698 LYST_HUMAN lysosomal trafficking regulator 373 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TTGGTGCAAAAGGGTCAGGCT 0.383000 3 160 0 0 0.009096 0 0 RFX7 64864 broad.mit.edu 37 15 56393703 56393703 + Missense_Mutation SNP G G T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr15:56393703G>T ENST00000423270.1 - 7 664 c.665C>A c.(664-666)gCt>gAt p.A222D RFX7_ENST00000317318.6_Missense_Mutation_p.A222D|RFX7_ENST00000559447.2_Missense_Mutation_p.A125D|RFX7_ENST00000422057.1_Missense_Mutation_p.A125D NM_022841.5 NP_073752.5 Q2KHR2 RFX7_HUMAN regulatory factor X, 7 125 regulation of transcription, DNA-dependent nucleus DNA binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 AAGACGGCAAGCAGAAGAGAT 0.423000 8 47 4.1943e-16 4.84796e-16 0.069234 1 0 F8 2157 broad.mit.edu 37 X 154250784 154250784 + Missense_Mutation SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chrX:154250784C>T ENST00000360256.4 - 1 244 c.44G>A c.(43-45)cGa>cAa p.R15Q NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 15 acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AAAGCAGAATCGCAAAAGGCA 0.448000 4 117 0 0 0.014758 0 0 ZNFX1 57169 broad.mit.edu 37 20 47863942 47863942 + Silent SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr20:47863942C>T ENST00000396105.1 - 14 5865 c.5619G>A c.(5617-5619)aaG>aaA p.K1873K ZNFX1_ENST00000371752.1_Silent_p.K1873K|ZNFX1_ENST00000371754.4_Intron NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 1873 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CAATCACTTCCTTACAGTCAG 0.527000 10 66 0 0 0.080935 0 0 ASB5 140458 broad.mit.edu 37 4 177146412 177146412 + Splice_Site SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr4:177146412C>T ENST00000296525.3 - 2 390 c.e2+1 ASB5_ENST00000512254.1_Splice_Site|ASB5_ENST00000511879.1_Splice_Site NM_080874.3 NP_543150.1 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box containing 5 intracellular signal transduction endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2) 34 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) TAATATATTACCTGTGATAAT 0.363000 5 47 0 0 0.021553 0 0 DDX1 1653 broad.mit.edu 37 2 15770222 15770222 + Missense_Mutation SNP A A G TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr2:15770222A>G ENST00000381341.2 + 26 2469 c.2080A>G c.(2080-2082)Agg>Ggg p.R694G DDX1_ENST00000233084.3_Missense_Mutation_p.R694G Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 1 694 Necessary for interaction with HNRNPK. DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) CGGTCAGAAAAGGGCTGCTGG 0.373000 3 118 0 0 0.009096 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 3 49 0 0 0.021553 0 0 ATP8B4 79895 broad.mit.edu 37 15 50215663 50215663 + Silent SNP A A C TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr15:50215663A>C ENST00000284509.6 - 17 1812 c.1671T>G c.(1669-1671)ctT>ctG p.L557L ATP8B4_ENST00000559829.1_Silent_p.L557L NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 557 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) CTTTGGAATAAAGCTTTATCT 0.383000 4 40 0 0 0.014758 0 0 SLC52A3 113278 broad.mit.edu 37 20 746115 746115 + Missense_Mutation SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr20:746115C>T ENST00000381944.3 - 2 545 c.304G>A c.(304-306)Ggc>Agc p.G102S SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000217254.7_Missense_Mutation_p.G102S Q9NQ40 RFT2_HUMAN solute carrier family 52 (riboflavin transporter), member 3 102 sensory perception of sound integral to plasma membrane riboflavin transporter activity CTGTGGTGGCCGTCCAGCACC 0.597000 3 10 0 0 0.115264 0 0 USHBP1 83878 broad.mit.edu 37 19 17373676 17373676 + Silent SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr19:17373676C>T ENST00000252597.3 - 4 500 c.327G>A c.(325-327)gtG>gtA p.V109V USHBP1_ENST00000431146.2_Silent_p.V45V|USHBP1_ENST00000598570.1_5'UTR NM_031941.3 NP_114147.2 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 109 PDZ domain binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 TCCCAGGGGGCACAGTCTCCT 0.667000 14 102 0 0 0.146539 0 0 TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T rs28934576 by1000genomes TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr17:7577120C>T ENST00000420246.2 - 8 950 c.818G>A c.(817-819)cGt>cAt p.R273H TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCACAAACACGCACCTCAAA 0.542000 R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 6 22 0 0 0.021553 0 0 HS3ST4 9951 broad.mit.edu 37 16 26147117 26147117 + Missense_Mutation SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr16:26147117G>A ENST00000331351.5 + 2 1311 c.919G>A c.(919-921)Gag>Aag p.E307K HS3ST4_ENST00000475436.1_3'UTR NM_006040.2 NP_006031.2 Q9Y661 HS3S4_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 4 307 heparan sulfate proteoglycan metabolic process extracellular region|Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(2)|endometrium(3)|large_intestine(1)|lung(9) 15 GBM - Glioblastoma multiforme(48;0.0988) AAAGAAACCCGAGATCCCCAC 0.537000 20 165 0 0 0.062417 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr3:178936091G>A ENST00000263967.3 + 10 1790 c.1633G>A c.(1633-1635)Gag>Aag p.E545K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 545 PI3K helical. E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(881)|p.E545Q(18) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353000 E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 10 57 0 0 0.093190 0 0 SMARCA1 6594 broad.mit.edu 37 X 128615129 128615129 + Nonsense_Mutation SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chrX:128615129G>A ENST00000371122.4 - 18 2380 c.2251C>T c.(2251-2253)Cga>Tga p.R751* SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.R739*|SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.R739* NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 751 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 TTGCGTTCTCGTTTAGGAGGT 0.423000 11 49 0 0 0.105934 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628251 29628251 + Missense_Mutation SNP A A G TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr20:29628251A>G ENST00000278882.3 + 6 633 c.253A>G c.(253-255)Aat>Gat p.N85D FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D|FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D p.N85D(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTTGGCCTCAAATAGCTGCTT 0.358000 4 84 0 0 0.021553 0 0 ITGB8 3696 broad.mit.edu 37 7 20421356 20421356 + Missense_Mutation SNP A A C TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr7:20421356A>C ENST00000222573.3 + 6 1492 c.808A>C c.(808-810)Atc>Ctc p.I270L ITGB8_ENST00000537992.1_Missense_Mutation_p.I135L NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 270 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 TAAGAGTCATATCGGATGGCG 0.398000 3 47 0 0 0.014758 0 0 SH2D4A 63898 broad.mit.edu 37 8 19190591 19190591 + Missense_Mutation SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr8:19190591C>T ENST00000265807.3 + 3 718 c.307C>T c.(307-309)Cgg>Tgg p.R103W SH2D4A_ENST00000519207.1_Missense_Mutation_p.R103W|SH2D4A_ENST00000518040.1_Missense_Mutation_p.R58W NM_001174160.1|NM_022071.3 NP_001167631.1|NP_071354.2 Q9H788 SH24A_HUMAN SH2 domain containing 4A 103 cytoplasm|nucleus protein binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1) 16 Colorectal(111;0.0732) TGAGAGGGCCCGGCTGAAAGC 0.463000 8 68 0 0 0.047766 0 0 ANP32E 81611 broad.mit.edu 37 1 150202922 150202922 + Missense_Mutation SNP C C G TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr1:150202922C>G ENST00000314136.8 - 3 680 c.311G>C c.(310-312)aGt>aCt p.S104T ANP32E_ENST00000436748.2_Intron|ANP32E_ENST00000369114.5_Missense_Mutation_p.S104T|ANP32E_ENST00000369115.2_Intron|ANP32E_ENST00000369116.4_Intron|ANP32E_ENST00000369119.3_Missense_Mutation_p.S56T|ANP32E_ENST00000533654.1_Missense_Mutation_p.S104T NM_001136478.2|NM_030920.3 NP_001129950.1|NP_112182.1 Q9BTT0 AN32E_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 family, member E 104 cytoplasmic membrane-bounded vesicle|nucleus phosphatase inhibitor activity breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1) 15 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) TTCTACTGTACTGAGATCTTT 0.343000 7 57 0 0 0.029380 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62857035 62857035 + Missense_Mutation SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr17:62857035G>A ENST00000584306.1 - 11 3759 c.3229C>T c.(3229-3231)Cgg>Tgg p.R1077W LRRC37A3_ENST00000334962.5_Missense_Mutation_p.R54W|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.R1077W|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.R115W|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.R195W NM_199340.2 NP_955372.2 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 1077 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 TAATTCTTCCGGGCTTGTAAC 0.483000 24 269 0 0 0.091800 0 0 MYH11 4629 broad.mit.edu 37 16 15841500 15841500 + Missense_Mutation SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr16:15841500C>T ENST00000338282.6 - 19 2444 c.2338G>A c.(2338-2340)Gag>Aag p.E780K MYH11_ENST00000576790.1_Missense_Mutation_p.E780K|MYH11_ENST00000452625.2_Missense_Mutation_p.E787K|MYH11_ENST00000396324.3_Missense_Mutation_p.E787K|MYH11_ENST00000300036.5_Missense_Mutation_p.E780K NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 780 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 TCTCGCTCCTCCTCTAGGTGG 0.498000 T CBFB AML 13 86 0 0 0.132662 0 0 STAT1 6772 broad.mit.edu 37 2 191843715 191843715 + Silent SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr2:191843715G>A ENST00000361099.3 - 21 2127 c.1740C>T c.(1738-1740)ggC>ggT p.G580G STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Silent_p.G580G|STAT1_ENST00000392322.3_Silent_p.G580G|STAT1_ENST00000392323.2_Silent_p.G582G NM_007315.3 NP_009330.1 P42224 STAT1_HUMAN signal transducer and activator of transcription 1, 91kDa 580 SH2. activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) TGCTGATGAAGCCCATGATGC 0.522000 3 21 0 0 0.009096 0 0 FAT4 79633 broad.mit.edu 37 4 126372350 126372350 + Silent SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr4:126372350C>T ENST00000394329.3 + 9 10192 c.10179C>T c.(10177-10179)gtC>gtT p.V3393V FAT4_ENST00000335110.5_Silent_p.V1691V NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3393 Cadherin 32. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CTGTAAATGTCACCGTGCTTG 0.428000 19 161 0 0 0.055883 0 0 DUSP21 63904 broad.mit.edu 37 X 44703847 44703847 + Missense_Mutation SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chrX:44703847G>A ENST00000339042.4 + 1 599 c.469G>A c.(469-471)Gaa>Aaa p.E157K NM_022076.3 NP_071359.3 Q9H596 DUS21_HUMAN dual specificity phosphatase 21 157 Tyrosine-protein phosphatase. cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity p.E157K(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3) 19 CATCAATTACGAATTCAAGCT 0.498000 9 54 0 0 0.058154 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625895 29625895 + Missense_Mutation SNP G G A rs76435412 by1000genomes TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr20:29625895G>A ENST00000278882.3 + 5 519 c.139G>A c.(139-141)Gga>Aga p.G47R FRG1B_ENST00000358464.4_Missense_Mutation_p.G47R|FRG1B_ENST00000439954.2_Missense_Mutation_p.G52R endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATCTGGCTATGGAAAATATCT 0.343000 10 71 0 0 0.105934 0 0 TTLL10 254173 broad.mit.edu 37 1 1117129 1117129 + Missense_Mutation SNP A A T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr1:1117129A>T ENST00000379290.1 + 9 937 c.764A>T c.(763-765)aAg>aTg p.K255M TTLL10_ENST00000379288.3_Missense_Mutation_p.K182M|TTLL10_ENST00000379289.1_Missense_Mutation_p.K255M Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase-like family, member 10 255 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) AGGCTGGAAAAGGACGCAGCA 0.672000 3 12 0 0 0.115264 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41752766 41752766 + Missense_Mutation SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr22:41752766G>A ENST00000352645.4 + 22 2892 c.2635G>A c.(2635-2637)Ggc>Agc p.G879S ZC3H7B_ENST00000351589.4_Missense_Mutation_p.G879S NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 895 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 TGACGCCAGCGGCTGGGCCTT 0.647000 4 115 0 0 0.014758 0 0 STPG2 285555 broad.mit.edu 37 4 98893492 98893492 + Missense_Mutation SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr4:98893492G>A ENST00000295268.3 - 7 961 c.872C>T c.(871-873)cCt>cTt p.P291L NM_174952.2 NP_777612.1 sperm-tail PG-rich repeat containing 2 GAAAGTCCGAGGAACAGAAGA 0.358000 6 120 0 0 0.029380 0 0 MAP3K9 4293 broad.mit.edu 37 14 71205084 71205084 + Silent SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr14:71205084G>A ENST00000554752.2 - 8 1721 c.1722C>T c.(1720-1722)ggC>ggT p.G574G MAP3K9_ENST00000554146.1_Silent_p.G311G|MAP3K9_ENST00000381250.4_Silent_p.G574G|MAP3K9_ENST00000555993.2_Silent_p.G574G|MAP3K9_ENST00000553414.1_Silent_p.G316G P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 574 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) CTGAGCTCCTGCCccaggttt 0.567000 11 77 0 0 0.069234 0 0 DIAPH1 1729 broad.mit.edu 37 5 140908785 140908785 + Missense_Mutation SNP T T C TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr5:140908785T>C ENST00000253811.6 - 21 2875 c.2735A>G c.(2734-2736)aAg>aGg p.K912R DIAPH1_ENST00000520569.1_Missense_Mutation_p.K854R|DIAPH1_ENST00000518047.1_Missense_Mutation_p.K899R|DIAPH1_ENST00000494967.1_5'UTR|DIAPH1_ENST00000398557.4_Missense_Mutation_p.K911R|DIAPH1_ENST00000398562.2_Missense_Mutation_p.K887R|DIAPH1_ENST00000398566.3_Missense_Mutation_p.K903R|DIAPH1_ENST00000389054.3_Missense_Mutation_p.K908R|DIAPH1_ENST00000389057.5_Missense_Mutation_p.K902R O60610 DIAP1_HUMAN diaphanous-related formin 1 911 FH2. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATATTCATCCTTCAGTTCAGA 0.498000 9 73 0 0 0.047766 0 0 MAP9 79884 broad.mit.edu 37 4 156277012 156277012 + Silent SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr4:156277012C>T ENST00000311277.4 - 9 1409 c.1146G>A c.(1144-1146)aaG>aaA p.K382K AC097467.2_ENST00000593387.1_RNA|MAP9_ENST00000515654.1_Silent_p.K358K|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000598252.1_RNA NM_001039580.1 NP_001034669.1 Q49MG5 MAP9_HUMAN microtubule-associated protein 9 382 cell division|mitosis cytoplasm|microtubule|spindle NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) AACTAGATTTCTTCAAAAACT 0.348000 4 38 0 0 0.021553 0 0 NUDT11 55190 broad.mit.edu 37 X 51238820 51238820 + Silent SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chrX:51238820C>T ENST00000375992.3 - 1 628 c.477G>A c.(475-477)tcG>tcA p.S159S NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 159 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) CGCTATCTGGCGAGGATGGGG 0.562000 HNSCC(48;0.14) 4 31 0 0 0.021553 0 0 WFIKKN2 124857 broad.mit.edu 37 17 48917985 48917985 + Missense_Mutation SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr17:48917985C>T ENST00000311378.4 + 2 1864 c.1336C>T c.(1336-1338)Cgg>Tgg p.R446W WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R353W|RP11-506D12.5_ENST00000572491.2_RNA NM_175575.5 NP_783165.1 Q8TEU8 WFKN2_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 446 NTR. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) CCAGCGCTGTCGGGCCTGCAA 0.622000 8 55 0 0 0.038147 0 0 CHD1 1105 broad.mit.edu 37 5 98218909 98218909 + Silent SNP T T C TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr5:98218909T>C ENST00000284049.3 - 18 2750 c.2601A>G c.(2599-2601)ggA>ggG p.G867G NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 867 Helicase C-terminal. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) TCCCTAGACCTCCAGCTCTTG 0.373000 3 43 0 0 0.009096 0 0 WIZ 58525 broad.mit.edu 37 19 15559028 15559028 + Nonsense_Mutation SNP C C A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr19:15559028C>A ENST00000389282.4 - 2 304 c.91G>T c.(91-93)Gag>Tag p.E31* WIZ_ENST00000263381.6_Nonsense_Mutation_p.E31* O95785 WIZ_HUMAN widely interspaced zinc finger motifs 31 nucleus zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 24 GCCCCACCCTCGATGTTCTCC 0.647000 3 69 0.115264 0.123596 0.115264 1 0 KRTAP4-1 85285 broad.mit.edu 37 17 39340710 39340710 + Missense_Mutation SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr17:39340710G>A ENST00000398472.1 - 1 884 c.397C>T c.(397-399)Cgt>Tgt p.R133C Q9BYQ7 KRA41_HUMAN keratin associated protein 4-1 133 18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL]. keratin filament p.R129C(1)|p.R133C(1) kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) CAAGTTGCACGGCAGCAGGTG 0.577000 6 126 0 0 0.038147 0 0 SYNE3 161176 broad.mit.edu 37 14 95921870 95921870 + Silent SNP G G C TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr14:95921870G>C ENST00000334258.5 - 5 995 c.981C>G c.(979-981)ctC>ctG p.L327L SYNE3_ENST00000554873.1_Silent_p.L84L|SYNE3_ENST00000557275.1_Silent_p.L327L|SYNE3_ENST00000553340.1_Silent_p.L327L NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CCCTGGACCGGAGCAGGCCCC 0.637000 10 93 0 0 0.069234 0 0 TCF7L1 83439 broad.mit.edu 37 2 85536379 85536379 + Missense_Mutation SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr2:85536379G>A ENST00000282111.3 + 12 1836 c.1561G>A c.(1561-1563)Gcc>Acc p.A521T NM_031283.2 NP_112573.1 Q9HCS4 TF7L1_HUMAN transcription factor 7-like 1 (T-cell specific, HMG-box) 521 chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1) 18 CCACTCTGCCGCCTTCCTGTC 0.687000 6 26 0 0 0.038147 0 0 PCDH11X 27328 broad.mit.edu 37 X 91133558 91133558 + Missense_Mutation SNP T T A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chrX:91133558T>A ENST00000373094.1 + 2 3164 c.2319T>A c.(2317-2319)aaT>aaA p.N773K PCDH11X_ENST00000373097.1_Missense_Mutation_p.N773K|PCDH11X_ENST00000361655.2_Missense_Mutation_p.N773K|PCDH11X_ENST00000504220.1_Missense_Mutation_p.N773K|PCDH11X_ENST00000395337.2_Missense_Mutation_p.N773K|PCDH11X_ENST00000298274.8_Missense_Mutation_p.N773K|PCDH11X_ENST00000406881.1_Missense_Mutation_p.N773K|PCDH11X_ENST00000361724.1_Missense_Mutation_p.N773K|PCDH11X_ENST00000373088.1_Missense_Mutation_p.N773K NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 773 Cadherin 7. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 TGTTCGTGAATGAGTCGGTGA 0.433000 15 124 0 0 0.119110 0 0 OLIG2 10215 broad.mit.edu 37 21 34399432 34399432 + Missense_Mutation SNP T T G TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr21:34399432T>G ENST00000333337.3 + 1 1190 c.262T>G c.(262-264)Tcg>Gcg p.S88A AP000282.2_ENST00000420356.1_RNA|OLIG2_ENST00000382357.3_Missense_Mutation_p.S88A|AP000282.2_ENST00000454622.1_RNA Q13516 OLIG2_HUMAN oligodendrocyte lineage transcription factor 2 88 Poly-Ser. cytoplasm|nucleus|plasma membrane DNA binding breast(1)|central_nervous_system(2) 3 GTCTACGTCGTCGGCGGCTGC 0.632000 T TRA@ T-ALL 6 18 0 0 0.038147 0 0 C6 729 broad.mit.edu 37 5 41199881 41199881 + Missense_Mutation SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr5:41199881C>T ENST00000263413.3 - 4 698 c.434G>A c.(433-435)cGc>cAc p.R145H C6_ENST00000337836.5_Missense_Mutation_p.R145H NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 145 LDL-receptor class A. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding p.R145P(1) central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) ACTGTCACAGCGAAATTTATT 0.413000 15 105 0 0 0.146539 0 0 PELP1 27043 broad.mit.edu 37 17 4575883 4575883 + Silent SNP T T G TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr17:4575883T>G ENST00000301396.4 - 16 3060 c.2835A>C c.(2833-2835)ccA>ccC p.P945P PELP1_ENST00000269230.7_Silent_p.P711P|PELP1_ENST00000574876.1_Silent_p.P801P|PELP1_ENST00000572293.1_Silent_p.P851P|PELP1_ENST00000436683.2_Silent_p.P654P Q8IZL8 PELP1_HUMAN proline, glutamate and leucine rich protein 1 801 Glu-rich. transcription, DNA-dependent cytoplasm|MLL1 complex protein binding breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 15 CTGAGGGTGGTGGGGGTGGCA 0.622000 4 27 0 0 0.029380 0 0 LOC645752 645752 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 4 224 0 0 0.009096 0 0 KRT78 196374 broad.mit.edu 37 12 53233611 53233611 + Missense_Mutation SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr12:53233611G>A ENST00000359499.4 - 7 886 c.875C>T c.(874-876)aCg>aTg p.T292M KRT78_ENST00000304620.4_Missense_Mutation_p.T402M Q8N1N4 K2C78_HUMAN keratin 78 402 Coil 2.|Rod. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 GGAAAGCTTCGTGCTCGTCAG 0.612000 9 59 0 0 0.047766 0 0 USP34 9736 broad.mit.edu 37 2 61456687 61456687 + Missense_Mutation SNP C C G TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr2:61456687C>G ENST00000398571.2 - 59 7271 c.7195G>C c.(7195-7197)Gat>Cat p.D2399H NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 2399 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) TCTTACCCATCTTCCATTCCT 0.348000 19 238 0 0 0.083992 0 0 ARHGEF18 23370 broad.mit.edu 37 19 7531842 7531842 + Missense_Mutation SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr19:7531842C>T ENST00000593531.1 + 17 2252 c.2252C>T c.(2251-2253)cCa>cTa p.P751L ARHGEF18_ENST00000319670.9_Silent_p.P635P|ARHGEF18_ENST00000359920.6_Silent_p.P793P CCCGTCTGCCCACCGTCCTGG 0.637000 11 68 0 0 0.080935 0 0 GDPD1 284161 broad.mit.edu 37 17 57298028 57298028 + Missense_Mutation SNP T T C TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr17:57298028T>C ENST00000284116.4 + 1 195 c.58T>C c.(58-60)Tca>Cca p.S20P GDPD1_ENST00000581276.1_Missense_Mutation_p.S20P|GDPD1_ENST00000581140.1_Missense_Mutation_p.S20P NM_182569.3 NP_872375.2 Q8N9F7 GDPD1_HUMAN glycerophosphodiester phosphodiesterase domain containing 1 20 glycerol metabolic process|lipid metabolic process cytoplasm|integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1) 6 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) CTTGGTGACCTCATTCTTGTT 0.542000 OREG0024617 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 136 0 0 0.115264 0 0 MEP1A 4224 broad.mit.edu 37 6 46787388 46787388 + Nonsense_Mutation SNP C C G TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr6:46787388C>G ENST00000230588.4 + 7 512 c.503C>G c.(502-504)tCa>tGa p.S168* NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 168 Metalloprotease. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) CACGAGCAGTCAAGGACGGAC 0.478000 5 227 0 0 0.029380 0 0 CKS1B 1163 broad.mit.edu 37 1 154947327 154947327 + Translation_Start_Site SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr1:154947327G>A ENST00000368439.1 + 0 199 CKS1B_ENST00000368436.1_Intron|CKS1B_ENST00000308987.5_Intron P61024 CKS1_HUMAN CDC28 protein kinase regulatory subunit 1B cell division|cell proliferation|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle nucleoplasm cyclin-dependent protein kinase regulator activity|protein binding breast(1)|large_intestine(1)|lung(1) 3 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) AGCTTTGGCCGCTGAGGGCAC 0.512000 3 29 0 0 0.115264 0 0 METTL14 57721 broad.mit.edu 37 4 119621745 119621745 + Missense_Mutation SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr4:119621745C>T ENST00000388822.4 + 8 853 c.686C>T c.(685-687)tCa>tTa p.S229L METTL14_ENST00000506780.1_Missense_Mutation_p.S191L Q9HCE5 MTL14_HUMAN methyltransferase like 14 229 nucleus mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1) 16 GCACCTCGATCATTTATTTTT 0.338000 12 81 0 0 0.132662 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 7 47 0 0 0.047766 0 0 TICAM2 353376 broad.mit.edu 37 5 114916440 114916440 + Missense_Mutation SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr5:114916440G>A ENST00000408996.4 - 4 1407 c.1021C>T c.(1021-1023)Ccc>Tcc p.P341S TMED7-TICAM2_ENST00000333314.3_3'UTR|TICAM2_ENST00000427199.2_Missense_Mutation_p.P172S|TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.P341S NM_001164468.2|NM_001164469.2 NP_001157940.1|NP_001157941.1 toll-like receptor adaptor molecule 2 cervix(1)|kidney(1)|lung(2)|soft_tissue(1) 5 all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156) OV - Ovarian serous cystadenocarcinoma(64;4.38e-07)|Epithelial(69;1.62e-06)|all cancers(49;6.93e-05) GGCCGCATGGGTATAACAGAG 0.443000 6 84 0 0 0.038147 0 0 CSMD3 114788 broad.mit.edu 37 8 113241099 113241099 + Nonsense_Mutation SNP G G T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr8:113241099G>T ENST00000297405.5 - 70 11094 c.10850C>A c.(10849-10851)tCa>tAa p.S3617* CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S3547*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S3448*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S3577* NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3617 integral to membrane|plasma membrane p.S3617*(1)|p.S3577*(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TGAAGAATTTGAACCTTCTGA 0.279000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 4 46 0.00909568 0.00999402 0.009096 1 0 RAB11FIP3 9727 broad.mit.edu 37 16 546835 546835 + Missense_Mutation SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr16:546835G>A ENST00000262305.4 + 6 1665 c.1277G>A c.(1276-1278)cGg>cAg p.R426Q RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.R471Q|RAB11FIP3_ENST00000450428.1_Missense_Mutation_p.R130Q NM_014700.3 NP_055515.1 O75154 RFIP3_HUMAN RAB11 family interacting protein 3 (class II) 426 cell cycle|cytokinesis|endocytic recycling|protein transport centrosome|cleavage furrow|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1) 12 Hepatocellular(16;0.0218) CCGACAAAGCGGCTCTCCAGC 0.423000 13 92 0 0 0.119110 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1815178 1815178 + Splice_Site SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr16:1815178C>T ENST00000250894.4 + 20 2599 c.2443_splice c.e20+1 p.P814_splice MAPK8IP3_ENST00000356010.5_Splice_Site_p.P808_splice NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 814 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 CCAGCATCCCCGGTGAGCAGC 0.617000 3 18 0 0 0.115264 0 0 KIAA0895L 653319 broad.mit.edu 37 16 67213451 67213451 + Silent SNP C C G TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr16:67213451C>G ENST00000290881.7 - 5 1655 c.729G>C c.(727-729)ctG>ctC p.L243L KIAA0895L_ENST00000561621.1_Silent_p.L243L|KIAA0895L_ENST00000563902.1_Silent_p.L243L|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000561679.1_5'UTR Q68EN5 K895L_HUMAN KIAA0895-like 243 breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1) 17 GGTCCTCACTCAGCTGCACCA 0.647000 4 40 0 0 0.009096 0 0 CSNK1A1L 122011 broad.mit.edu 37 13 37679304 37679304 + Silent SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr13:37679304G>A ENST00000379800.3 - 1 499 c.90C>T c.(88-90)gaC>gaT p.D30D NM_145203.5 NP_660204.2 Q8N752 KC1AL_HUMAN casein kinase 1, alpha 1-like 30 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 37 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407) CCAGATAAACGTCTCCAAAGG 0.537000 7 122 0 0 0.047766 0 0 CTDSP2 10106 broad.mit.edu 37 12 58221344 58221344 + Missense_Mutation SNP C C A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr12:58221344C>A ENST00000398073.2 - 3 546 c.243G>T c.(241-243)caG>caT p.Q81H CTDSP2_ENST00000548823.1_Intron|CTDSP2_ENST00000547701.1_5'UTR NM_005730.3 NP_005721.3 O14595 CTDS2_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 81 protein dephosphorylation nucleus|soluble fraction CTD phosphatase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2) 7 all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122) CCTGGTAGAACTGGTACTGGA 0.562000 3 26 0.115264 0.123596 0.115264 1 0 CACNG7 59284 broad.mit.edu 37 19 54418666 54418666 + Missense_Mutation SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr19:54418666G>A ENST00000391767.1 + 4 543 c.331G>A c.(331-333)Gtg>Atg p.V111M CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Missense_Mutation_p.V111M|CACNG7_ENST00000222212.2_Missense_Mutation_p.V111M P62955 CCG7_HUMAN calcium channel, voltage-dependent, gamma subunit 7 111 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) CCTCTTCCTCGTGTTCACGGC 0.607000 9 49 0 0 0.058154 0 0 APOB 338 broad.mit.edu 37 2 21233487 21233487 + Nonsense_Mutation SNP G G A rs121918386 TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr2:21233487G>A ENST00000233242.1 - 26 6380 c.6253C>T c.(6253-6255)Cga>Tga p.R2085* NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2085 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ATGGTTTGTCGATTCCTCTCA 0.343000 6 57 0 0 0.021553 0 0 JAK1 3716 broad.mit.edu 37 1 65306941 65306941 + Missense_Mutation SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr1:65306941C>T ENST00000342505.4 - 19 2884 c.2636G>A c.(2635-2637)cGt>cAt p.R879H NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 879 Protein kinase 2. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) TCCCAAGTCACGGATCCTCTT 0.493000 Mis ALL 9 70 0 0 0.047766 0 0 MTMR11 10903 broad.mit.edu 37 1 149905361 149905361 + Missense_Mutation SNP T T C TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr1:149905361T>C ENST00000439741.2 - 10 1173 c.923A>G c.(922-924)gAg>gGg p.E308G MTMR11_ENST00000406732.3_Missense_Mutation_p.E280G|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.E236G|MTMR11_ENST00000361405.6_Intron NM_001145862.1 NP_001139334.1 A4FU01 MTMRB_HUMAN myotubularin related protein 11 308 Myotubularin phosphatase. phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) GCTGGGCAGCTCATCCATAGT 0.567000 3 79 0 0 0.115264 0 0 FARP1 10160 broad.mit.edu 37 13 99042297 99042297 + Silent SNP C C A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr13:99042297C>A ENST00000376586.2 + 10 1278 c.942C>A c.(940-942)gcC>gcA p.A314A FARP1_ENST00000595437.1_Silent_p.A314A|FARP1_ENST00000319562.6_Silent_p.A314A Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 314 FERM. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) AACATCATGCCTTCTTTAGAC 0.488000 7 155 2.0095e-06 2.29289e-06 0.029380 1 0 PGAP1 80055 broad.mit.edu 37 2 197763049 197763049 + Silent SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr2:197763049G>A ENST00000354764.3 - 6 966 c.852C>T c.(850-852)tcC>tcT p.S284S PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Silent_p.S242S|PGAP1_ENST00000409475.1_Silent_p.S284S NM_024989.3 NP_079265.2 Q75T13 PGAP1_HUMAN post-GPI attachment to proteins 1 284 attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1) 40 ACCACACAATGGAGAGGTGGT 0.343000 11 67 0 0 0.080935 0 0 JAK1 3716 broad.mit.edu 37 1 65303626 65303626 + Silent SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr1:65303626G>A ENST00000342505.4 - 22 3377 c.3129C>T c.(3127-3129)agC>agT p.S1043S NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 1043 Protein kinase 2. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) AAAACACAGGGCTGTCCCGGT 0.398000 Mis ALL 3 52 0 0 0.115264 0 0 LYPD3 27076 broad.mit.edu 37 19 43965777 43965777 + Missense_Mutation SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr19:43965777G>A ENST00000244333.3 - 5 855 c.767C>T c.(766-768)aCc>aTc p.T256I NM_014400.2 NP_055215.2 O95274 LYPD3_HUMAN LY6/PLAUR domain containing 3 256 anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) GGTAGAAGTGGTGACAGATGT 0.612000 20 118 0 0 0.049695 0 0 PNMA3 29944 broad.mit.edu 37 X 152226306 152226306 + Silent SNP A A G TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chrX:152226306A>G ENST00000447306.1 + 2 1230 c.894A>G c.(892-894)ttA>ttG p.L298L PNMA3_ENST00000370265.4_Silent_p.L298L|PNMA3_ENST00000370264.4_Silent_p.L298L NM_013364.4 NP_037496.3 Q9UL41 PNMA3_HUMAN paraneoplastic Ma antigen 3 298 apoptosis nucleolus nucleic acid binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 16 Acute lymphoblastic leukemia(192;6.56e-05) aacgagtcttaagtggggcca 0.502000 6 63 0 0 0.029380 0 0 RASA3 22821 broad.mit.edu 37 13 114751137 114751137 + Missense_Mutation SNP T T C TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr13:114751137T>C ENST00000334062.7 - 23 2499 c.2378A>G c.(2377-2379)gAg>gGg p.E793G RASA3_ENST00000389544.4_Missense_Mutation_p.E761G NM_007368.2 NP_031394.2 Q14644 RASA3_HUMAN RAS p21 protein activator 3 793 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) CTGGGCGTGCTCCTGCTCCAA 0.582000 15 183 0 0 0.033300 0 0 MSH4 4438 broad.mit.edu 37 1 76365359 76365359 + Missense_Mutation SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr1:76365359G>A ENST00000263187.3 + 19 2691 c.2587G>A c.(2587-2589)Gaa>Aaa p.E863K NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 863 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding p.E863K(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 GGATGCCAAGGAAATCACAAC 0.294000 Mismatch excision repair (MMR) 8 66 0 0 0.047766 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971120 21971120 + Nonsense_Mutation SNP G G A rs121913388 TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr9:21971120G>A ENST00000304494.5 - 2 508 c.238C>T c.(238-240)Cga>Tga p.R80* CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 80 R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TGCACGGGTCGGGTGAGAGTG 0.726000 R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 3 14 0 0 0.115264 0 0 JAK1 3716 broad.mit.edu 37 1 65303627 65303627 + Missense_Mutation SNP C C A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr1:65303627C>A ENST00000342505.4 - 22 3376 c.3128G>T c.(3127-3129)aGc>aTc p.S1043I NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 1043 Protein kinase 2. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) AAACACAGGGCTGTCCCGGTC 0.398000 Mis ALL 3 52 0.004672 0.0051976 0.115264 1 0 NLRP8 126205 broad.mit.edu 37 19 56466997 56466997 + Nonsense_Mutation SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr19:56466997C>T ENST00000291971.3 + 3 1644 c.1573C>T c.(1573-1575)Caa>Taa p.Q525* NLRP8_ENST00000590542.1_Nonsense_Mutation_p.Q525* NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 525 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CTGTTTCCCACAAAGACTCAA 0.433000 8 171 0 0 0.038147 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844763 18844763 + RNA SNP T T C TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr22:18844763T>C ENST00000412938.1 + 0 3013 TCACAGCCTCTGAGGGCAGCA 0.562000 3 14 0 0 0.115264 0 0 N4BP3 23138 broad.mit.edu 37 5 177548577 177548577 + Nonsense_Mutation SNP C C T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr5:177548577C>T ENST00000274605.5 + 5 1569 c.1210C>T c.(1210-1212)Caa>Taa p.Q404* NM_015111.1 NP_055926.1 O15049 N4BP3_HUMAN NEDD4 binding protein 3 404 cytoplasmic vesicle membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 9 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCTGAAGACACAACTTCGGGG 0.647000 13 85 0 0 0.119110 0 0 BAZ1B 9031 broad.mit.edu 37 7 72892011 72892011 + Missense_Mutation SNP T T C TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr7:72892011T>C ENST00000339594.4 - 7 2118 c.1780A>G c.(1780-1782)Aga>Gga p.R594G BAZ1B_ENST00000404251.1_Missense_Mutation_p.R594G NM_032408.3 NP_115784.1 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 594 ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Lung NSC(55;0.0659)|all_lung(88;0.152) TCCACCAATCTGAATGCTGGA 0.458000 4 187 0 0 0.009096 0 0 IFT43 112752 broad.mit.edu 37 14 76525675 76525675 + Missense_Mutation SNP G G A rs2302858 by1000genomes TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr14:76525675G>A ENST00000314067.6 + 5 288 c.254G>A c.(253-255)cGc>cAc p.R85H IFT43_ENST00000238628.6_Intron NM_001102564.1 NP_001096034.1 Q96FT9 IFT43_HUMAN intraflagellar transport 43 homolog (Chlamydomonas) 85 R -> H (in dbSNP:rs2302858). cilium morphogenesis|intraflagellar retrograde transport endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 GGCAGTTTCCGCCTCAGACCA 0.448000 7 85 0 0 0.038147 0 0 CD163 9332 broad.mit.edu 37 12 7636017 7636017 + Missense_Mutation SNP G G A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr12:7636017G>A ENST00000359156.4 - 12 3236 c.3034C>T c.(3034-3036)Cgc>Tgc p.R1012C CD163_ENST00000396620.3_Missense_Mutation_p.R1045C|CD163_ENST00000432237.2_Missense_Mutation_p.R1012C|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000541972.1_Missense_Mutation_p.R1000C NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 1012 SRCR 9. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 TGGCCCCAGCGTCTGGCAGGA 0.512000 7 50 0 0 0.029380 0 0 CTBS 1486 broad.mit.edu 37 1 85039999 85040007 + In_Frame_Del DEL GCAGCGCCA GCAGCGCCA - rs3217269 TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr1:85039999_85040007delGCAGCGCCA ENST00000370630.4 - 1 140_148 c.92_100delTGGCGCTGC c.(91-102)cgg>c p.LALR31del CTBS_ENST00000477677.1_5'UTR NM_004388.2 NP_004379.1 Q01459 DIAC_HUMAN chitobiase, di-N-acetyl- 31 lysosome cation binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1) 9 all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166) GCCGCGAGCCgcagcgccagcagcgccag 0.718 3 6 --- --- --- --- SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + RNA DEL AGC AGC - rs76272937 TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr3:12046124_12046126delAGC ENST00000432424.2 + 0 245_247 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGCCCCAGCAAGCGCCGAcgccg 0.764 2 4 --- --- --- --- FAM66B 100128890 broad.mit.edu 37 8 7196263 7196264 + RNA DEL AC AC - TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr8:7196263_7196264delAC ENST00000606573.1 - 0 703 ACTGAGGGGTacacacacacac 0.500 3 5 --- --- --- --- ANKRD20A1 84210 broad.mit.edu 37 9 67934791 67934794 + Frame_Shift_Del DEL AAAG AAAG - TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr9:67934791_67934794delAAAG ENST00000377477.2 + 4 673_676 c.561_564delAAAG c.(559-564)aafs p.KK187fs NM_032250.3 NP_115626.2 ankyrin repeat domain 20 family, member A1 kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1) 11 TTTTATTGAAAAAGAAAGCAAGTT 0.309 2 4 --- --- --- --- HNRNPKP3 399881 broad.mit.edu 37 11 43283605 43283606 + RNA INS - - A TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr11:43283605_43283606insA ENST00000511537.1 - 0 1329_1330 NR_033868.1 GAAGCAAATGTAAAAAAAAAAA 0.386 6 5 --- --- --- --- SORD2P 653381 broad.mit.edu 37 15 45123910 45123911 + RNA DEL AA AA - TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr15:45123910_45123911delAA ENST00000561384.2 - 0 726 ATCTGAAGGTAAAAAAAAAAAA 0.421 3 4 --- --- --- --- ADCY7 113 broad.mit.edu 37 16 50340985 50340986 + Frame_Shift_Ins INS - - C rs74793314 TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr16:50340985_50340986insC ENST00000394697.2 + 15 2117_2118 c.1777_1778insC c.(1777-1779)ccgfs p.P593fs ADCY7_ENST00000566433.2_Frame_Shift_Ins_p.P593fs|ADCY7_ENST00000538642.1_Frame_Shift_Ins_p.P593fs|ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000254235.3_Frame_Shift_Ins_p.P593fs P51828 ADCY7_HUMAN adenylate cyclase 7 593 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) CATCCCCCGGGCCCGCCACGAC 0.658 7 43 --- --- --- --- FAM192A 80011 broad.mit.edu 37 16 57206187 57206189 + In_Frame_Del DEL TTC TTC - TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chr16:57206187_57206189delTTC ENST00000309137.8 - 4 580_582 c.322_324delGAA c.(322-324)del p.E108del FAM192A_ENST00000566077.1_In_Frame_Del_p.E31del|FAM192A_ENST00000564108.1_In_Frame_Del_p.E108del|FAM192A_ENST00000567439.1_In_Frame_Del_p.E108del|FAM192A_ENST00000389447.5_In_Frame_Del_p.E108del|FAM192A_ENST00000569266.1_In_Frame_Del_p.E108del NM_024946.2 NP_079222.1 Q9GZU8 F192A_HUMAN family with sequence similarity 192, member A 108 nucleus endometrium(2)|large_intestine(3)|lung(4)|prostate(2) 11 GTTCTTTCAGTTCTTCTTCTCTT 0.404 9 108 --- --- --- --- ZNF41 7592 broad.mit.edu 37 X 47308645 47308646 + Frame_Shift_Ins INS - - T TCGA-D6-6515-01A-21D-1870-08 TCGA-D6-6515-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15c4d640-884c-4d55-897e-2f68314423fe ab033f13-89a6-427b-8675-eb4228c502a5 g.chrX:47308645_47308646insT ENST00000377065.4 - 5 1162_1163 c.523_524insA c.(523-525)aatfs p.N175fs ZNF41_ENST00000397050.2_Frame_Shift_Ins_p.N185fs|ZNF41_ENST00000313116.7_Frame_Shift_Ins_p.N175fs NM_153380.2 NP_700359.1 P51814 ZNF41_HUMAN zinc finger protein 41 217 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2) 24 all_lung(315;0.000129) CACATGAATTATTTTTTCAATG 0.332 15 131 --- --- --- ---